Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:multiple_epiphyseal_dysplasia
|
| gptkbp:encodes |
gptkb:collagen_alpha-3(IX)_chain
|
| gptkbp:Entrez_Gene_ID |
1299
|
| gptkbp:expressedIn |
collagen
|
| gptkbp:fullName |
gptkb:collagen_type_IX_alpha_3_chain
|
| gptkbp:function |
structural component of cartilage extracellular matrix
|
| gptkbp:hasRefSeqID |
NM_001853
|
| gptkbp:HGNC_ID |
2213
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL9A3
|
| gptkbp:locatedOnChromosome |
chromosome 20
|
| gptkbp:mutationAssociatedWith |
gptkb:Stickler_syndrome
|
| gptkbp:numberOfExons |
32
|
| gptkbp:OMIM |
120270
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:partOf |
collagen type IX
|
| gptkbp:UniProtID |
Q14050
|
| gptkbp:bfsParent |
gptkb:COL9A3_gene
gptkb:Ehlers-Danlos_syndromes |
| gptkbp:bfsLayer |
8
|